Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, E...

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Bibliographic Details
Main Authors: Allison Tam, Kit Shan Lee, Sansan Lee, William Burkhalter, Lucio U. Pascua, Thomas P. Slavin
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2013/149085
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